凝血因子Ⅴ和Ⅶ基因多态性与冠心病的初步研究

Association of coagulation factor Ⅴ,Ⅶ gene polymorphisms with coronary heart disease

目的 观察凝血因子 (coagulation factor ,F )、 (coagulation factor ,F )基因多态性在中国汉族人群中的分布及其与冠心病 (coronary heartdisease,CHD)的关系。方法 应用聚合酶链反应和限制性内切酶片段长度多态性技术检测了 2 34例 CHD患者和 2 10名正常对照者的 F 、F 基因型 ,结合选择性冠状动脉造影结果探讨两者的关系。结果 F 等位基因 R、Q和 H7、H6频率在冠心病组和对照组分别为 94 .6 %、5 .6 %、70 .3%、2 9.7%和 91.9%、8.1%、6 0 .9%、39.1%。基因型频率符合 Hardy-Weinberg平衡定律。R35 3Q和 HVR4基因型频率和等位基因频率在 CHD组和对照组 ,狭窄血管支数之间比较差异均无显著性。 R35 3Q基因型频率和等位基因频率在非心肌梗塞组和心肌梗塞组比较差异有显著性 (χ2 =4 .711,P<0 .0 5 ,OR=0 .37,95 % CI:0 .15～ 0 .94 ) ,而 HVR4基因多态在两组间比较差异无显著性(χ2 =0 .14 2 ,P>0 .0 5 )。冠心病组和对照组均没有发现 F L eiden突变。结论 F R35 3Q基因多态中的

Objective To study the distribution of coagulation factorⅤ(FⅤ), Ⅶ (FⅦ) gene polymorphisms in Chinese Han population and the association of the polymorphisms with coronary heart disease(CHD). Methods Genotypes of FⅤ,FⅦ were typed in 234 CHD patients and 210 controls by polymerase chain reaction restriction fragment length polymorphism. Selected coronary angiography was performed in 234 CHD patients. Results FⅦ allelic frequencies of R,Q and H7,H6 were 94.6%, 5.6%, 70.3%, 29.7% and 91.9%, 8.1%, 60.9%, 39.1% in CHD group and control group respectively. Genotype distribution was in accordance with Hardy Weinberg equilibrium. There was no significant difference in frequencies of allele and genotype in R353Q or HVR4 polymorphisms between CHD group and control group. The distribution of allele and genotype in R353Q was of significant difference between non myocardial infarction subgroup and myocardial infarction subgroup (χ 2=4.711, P <0.05,OR=0.37,95% CI:0.15-0.94). However, HVR4 polymorphism was not found to be of significant difference within two group (χ 2=0.142, P >0.05).There was no FⅤLeiden mutation in all the CHD patients and normal controls. Conclusion The Q allele of the R353Q polymorphism of the FⅦ gene may be a protective factor against myocardial infarction.